RGD:10450093 Rat Genome Database

Variant: RGD:10450093 - Homo sapiens

RGD ID:

10450093

RS ID:

rs864309659

ClinVar ID:

CV215656

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC126807125 SLC39A8

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	103,189,058
GRCh38	4	102,267,901

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_022154.5:c.1019T>A NC_000004.12:g.102267901A>T NC_000004.11:g.103189058A>T NP_071437.3:p.Ile340Asn More...	04/08/2023	missense variant	pathogenic\|likely pathogenic\|uncertain significance	CDG IIn; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; none provided; SLC39A8 deficiency

Disease Annotations Click to see Annotation Detail View

congenital disorder of glycosylation type IIn (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC39A8
Accession:	NM_022154
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	340

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVPEPGQLHFNQCLTAEEI FSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIINLASLLGLILTPLIKKSYFPK ILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQE KTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIANLCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVGNNFAPNIIFALAG GMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYAGEIELE*

Gene Symbol:	SLC39A8
Accession:	XM_047416071
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	126

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLKMLLKTYGQNGHTHFGNDNFGPQEKTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKG PKLSEIGTIAWMITLCDALHNFIDGLAIGASCTLSLLQGLSTSIANLCEEFPHELGDFVILLNAGMSTRQALLFNFLSAC SCYVGLAFGILVGNNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYA GEIELE*

Gene Symbol:	SLC39A8
Accession:	NM_001135148
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	273

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHQHAQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIINLASLLGL ILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNG HTHFGNDNFGPQEKTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMI TLCDALHNFIDGLAIGASCTLSLLQGLSTSIANLCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVG NNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYAGEIELE*

Gene Symbol:	SLC39A8
Accession:	XM_024454184
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	340

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVPEPGQLHFNQCLTAEEI FSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIINLASLLGLILTPLIKKSYFPK ILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQE KTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIANLCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVGNNFAPNIIFALAG GMFLYISLADMFPEMNDMLREKIIKWATDDIKSQLHLLWIYTRLTHMDLSGYSQMENFDKRLEEVKRGRIEYQFP*

Gene Symbol:	SLC39A8
Accession:	NM_001135147
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	340

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVPEPGQLHFNQCLTAEEI FSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIINLASLLGLILTPLIKKSYFPK ILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQE KTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIANLCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVGNNFAPNIIFALAG GMFLYISLADMFPEMNDMLREKIIKWATDDIKSQLHLLWIYTAR*

Gene Symbol:	SLC39A8
Accession:	XM_017008541
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	273

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHQHAQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIINLASLLGL ILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNG HTHFGNDNFGPQEKTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMI TLCDALHNFIDGLAIGASCTLSLLQGLSTSIANLCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVG NNFAPNIIFALAGGMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYAGEIELE*

Gene Symbol:	SLC39A8
Accession:	XM_047416070
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	340

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVPEPGQLHFNQCLTAEEI FSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIINLASLLGLILTPLIKKSYFPK ILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQE KTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIANLCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVGNNFAPNIIFALAG GMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYAGEIELE*

Gene Symbol:	SLC39A8
Accession:	NM_001135146
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	340

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASRVGVPEPGQLHFNQCLTAEEI FSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGFLSVTIINLASLLGLILTPLIKKSYFPK ILTFFVGLAIGTLFSNAIFQLIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQE KTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEIGTIAWMITLCDALHNFIDGL AIGASCTLSLLQGLSTSIANLCEEFPHELGDFVILLNAGMSTRQALLFNFLSACSCYVGLAFGILVGNNFAPNIIFALAG GMFLYISLADMFPEMNDMLREKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYAGEIELE*

Gene Symbol:	SLC39A8
Accession:	XM_024454183
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:26637979

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000203240	CLINVAR
	RCV000492852	CLINVAR
dbSNP (RS)	rs864309659	CLINVAR
MedGen	C3661900	CLINVAR
	C4225234	CLINVAR
NCBI Gene	LOC126807125	CLINVAR
	SLC39A8	CLINVAR
OMIM	608732	CLINVAR
	616721	CLINVAR
OMIM Allele	608732.0002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:10450093 - Homo sapiens

Imported Disease Annotations - ClinVar